Variant (rsID / SNP)
rs144242254
rs144242254 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLEC. Location: chromosome 8, position 144,997,503. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
PLECConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:144997503
- Cytoband
- 8q24.3
- HGVS
- NM_201384.3(PLEC):c.6594C>T (p.Thr2198=)
- Allele change
- Synonymous_T2198T
Associated conditions / phenotypes
Autosomal recessive limb-girdle muscular dystrophy type 2Q|Epidermolysis bullosa simplex 5B, with muscular dystrophy|Epidermolysis bullosa simplex 5C, with pyloric atresia|Epidermolysis bullosa simplex with nail dystrophy|Epidermolysis bullosa simplex, Ogna type
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.